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Papers Citing Disease Ontology
The Disease Ontology has been cited by more than 2,000 publications! To look at individual publications that cited the DO, check out our lens.org collection.
![Scopus citation overview with the yearly count of publications citing each official Disease Ontology article](/media/images/publications/scopus-citation_overview.png)
This snapshot of Scopus' citation overview shows the published Human Disease Ontology articles and the number of publications they have been cited by.
A graphical representation of publications that cited the DO by year and publication type can be found on the statistics page.
Last updated: June 2024
DO Project Publications
To cite your use of the Disease Ontology in your work, please cite one of these publications:
- Baron, J. A., Johnson, C. S., Schor, M. A., Olley, D., Nickel, L., Felix, V., Munro, J. B., Bello, S. M., Bearer, C., Lichenstein, R., Bisordi, K., Koka, R., Greene, C., & Schriml, L. M. (2024). The DO-KB Knowledgebase: a 20-year journey developing the disease open science ecosystem. Nucleic Acids Research, 52(D1):D1305-D1314. doi: 10.1093/nar/gkad1051; PMID:37953304; PDF.
- Schriml L. M., Lichenstein R., Bisordi K., Bearer C., Baron J. A., Greene C. (2023). Modeling the enigma of complex disease etiology (2023). Journal of Translational Medicine, 21(1):148. doi: 10.1186/s12967-023-03987-x; PMID:36829165; PDF.
- Baron J. A., Schriml L. M. (2023). Assessing resource use: a case study with the Human Disease Ontology. Database, 2023:baad007. doi: 10.1093/database/baad007; PMID:36856688; PDF.
- Schriml, L. M., Munro, J. B., Schor, M., Olley, D., McCracken, C., Felix, V., Baron, J. A., Jackson, R., Bello, S. M., Bearer, C., Lichenstein, R., Bisordi, K., Dialo, N. C., Giglio, M., & Greene, C. (2022). The Human Disease Ontology 2022 update. Nucleic Acids Research, 50(D1):D1255–D1261. doi:10.1093/nar/gkab1063; PMID:34755882; PDF.
- Schriml, L. M., Mitraka, E., Munro, J., Tauber, B., Schor, M., Nickle, L., Felix, V., Jeng, L., Bearer, C., Lichenstein, R., Bisordi, K., Campion, N., Hyman, B., Kurland, D., Oates, C. P., Kibbey, S., Sreekumar, P., Le, C., Giglio, M., & Greene, C. (2019). Human Disease Ontology 2018 update: Classification, content and workflow expansion. Nucleic Acids Research, 47(D1):D955–D962. doi:10.1093/nar/gky1032; PMID:30407550; PDF.
- Bello, S. M., Shimoyama, M., Mitraka, E., Laulederkind, S. J. F., Smith, C. L., Eppig, J. T., & Schriml, L. M. (2018). Disease Ontology: Improving and unifying disease annotations across species. Disease Models & Mechanisms, 11(3):dmm032839. doi:10.1242/dmm.032839; PMID:29590633; PDF.
- Schriml, L. M., & Mitraka, E. (2015). The Disease Ontology: Fostering interoperability between biological and clinical human disease-related data. Mammalian Genome, 26(9):584–589. doi:10.1007/s00335-015-9576-9; PMID:26093607; PDF.
- Wu, T. J., Schriml, L. M., Chen, Q. R., Colbert, M., Crichton, D. J., Finney, R., Hu, Y., Kibbe, W. A., Kincaid, H., Meerzaman, D., Mitraka, E., Pan, Y., Smith, K. M., Srivastava, S., Ward, S., Yan, C., & Mazumder, R. (2015). Generating a focused view of disease ontology cancer terms for pan-cancer data integration and analysis. Database, 2015:bav032. doi:10.1093/database/bav032; PMID:25841438; PDF.
- Kibbe, W. A., Arze, C., Felix, V., Mitraka, E., Bolton, E., Fu, G., Mungall, C. J., Binder, J. X., Malone, J., Vasant, D., Parkinson, H., & Schriml, L. M. (2015). Disease Ontology 2015 update: An expanded and updated database of human diseases for linking biomedical knowledge through disease data. Nucleic Acids Research, 43(D1):D1071–D1078. doi:10.1093/nar/gku1011; PMID:25348409; PDF.
- Schriml, L. M., Arze, C., Nadendla, S., Chang, Y.-W. W., Mazaitis, M., Felix, V., Feng, G., & Kibbe, W. A. (2012). Disease Ontology: A backbone for disease semantic integration. Nucleic Acids Research, 40(D1):D940–D946. doi:10.1093/nar/gkr972; PMID:22080554; PDF.
- Osborne, J. D., Flatow, J., Holko, M., Lin, S. M., Kibbe, W. A., Zhu, L. (Julie), Danila, M. I., Feng, G., & Chisholm, R. L. (2009). Annotating the human genome with Disease Ontology. BMC Genomics, 10(Suppl 1):S6. doi:10.1186/1471-2164-10-S1-S6; PMID:19594883; PDF.
- Du, P., Feng, G., Flatow, J., Song, J., Holko, M., Kibbe, W. A., & Lin, S. M. (2009). From disease ontology to disease-ontology lite: Statistical methods to adapt a general-purpose ontology for the test of gene-ontology associations. Bioinformatics, 25(12):i63–i68. doi:10.1093/bioinformatics/btp193; PMID:19478018; PDF.
DO Collaborative Publications
- CIViCdb 2022: evolution of an open-access cancer variant interpretation knowledgebase (2023). PMID:36373660
- Diseasomics: Actionable machine interpretable disease knowledge at the point-of-care (2022). PMID:36812614
- A comprehensive update on CIDO: the community-based coronavirus infectious disease ontology (2022). PMID:36271389
- A community approach to the cancer-variant-interpretation bottleneck (2022). PMID:35624339
- COVID-19 biomarkers and their overlap with comorbidities in a disease biomarker data model (2021). PMID:34015823
- Wikidata as a knowledge graph for the life sciences (2020). PMID:32180547
- ECO, the Evidence & Conclusion Ontology: community standard for evidence information (2019). PMID:30407590
- FoodOn: a harmonized food ontology to increase global food traceability, quality control and data integration (2018). PMID:31304272
- Wikidata as a semantic framework for the Gene Wiki initiative (2016). PMID:26989148
- The Human Phenotype Ontology: Semantic Unification of Common and Rare Disease (2015). PMID:26119816
- Generating a focused view of disease ontology cancer terms for pan-cancer data integration and analysis (2015). PMID:25841438
- GeMInA, Genomic Metadata for Infectious Agents, a geospatial surveillance pathogen database (2010). PMID:19850722